Raised awareness for genetic testing for breast cancer

Jilliane Sotelo, a licensed genetic counselor at UMass Memorial Medical Center in Worcester, routinely meets with people diagnosed with cancer to assess the hereditary component of their disease.

But since actress and director Angelina Jolie wrote an essay in the New York Times May 14 about her choice to have her healthy breasts removed because she carried the BRCA1 gene mutation, putting her at high risk for breast and ovarian cancer, calls have been coming in steadily.

“People find me, but never 14 in a week,” Ms. Sotelo said about the messages waiting on her desk. “There's definitely an uptick.”

Dr. James J. Rooney, chief of hematology and oncology at Worcester-based Reliant Medical Group has also seen more interest in BRCA discussions.

“I think it has brought attention to the public,” Dr. Rooney said about Jolie's essay.

The news that a movie star, whose career hinges in good part on how she looks, would alter her body preventively through mastectomy and breast reconstruction has given other women courage to confront their own cancer risk — and the prospect of taking radical precautions like Jolie.

Women who carry the BRCA1 or BRCA2 gene mutation have a lifetime risk of breast cancer of between 50 percent and 87 percent, according to Ms. Sotelo. The risk with these mutations for ovarian cancer is between 22 and 44 percent.

In the population without the mutation, lifetime risk for a woman to get breast cancer is about 8 to 12 percent and less than 2 percent for ovarian cancer.

The gene mutations occur in .3 percent of the population, although in certain groups, including Ashkenazi Jews and French Canadians, the mutations are found in 2 percent of the population. And a study published Monday found that black women also have an increased risk of having the BRCA mutations.

Jolie wrote that her mother died of cancer at 56 and her maternal aunt, who also carried the BRCA1 mutation, died of breast cancer recently.

A breast cancer patient with a BRCA mutation would not only be at higher risk for ovarian cancer, Ms. Sotelo said, but also for pancreatic cancer, melanoma. Males with the mutation have a greater risk for prostate and breast cancer.

Since Jolie's essay was published, Sotelo said, “We are seeing quite a few women come in (without a cancer diagnosis) who are concerned about their family history.”

She said genetic testing involves assessing an individual's medical history, family history and then the physical testing, which for the BRCA mutations involves a blood test.

The test is expensive — about $3,800 — but if patients meet risk criteria such as those outlined by the National Comprehensive Cancer Network ( www.nccn.org), insurers in Massachusetts generally cover it, Ms. Sotelo said.

Under the Affordable Care Act, insurance plans that began on or after Aug. 1, 2012, must cover genetic testing and counseling when recommended by a health care provider.

“We try to lay out what their risks are,” Ms. Sotelo said. “After they know the risks, I say to them, 'How are you feeling? What does this change for you?'

“We try to help them assess for themselves if this is something that's going to empower them or keep them up every night wondering if they're going to get cancer.”

Dr. Rooney said that when a nurse from Reliant's breast clinic, who talks to patients for an initial screening, refers someone to his department for high-risk assessment, the medical specialist's job is to help the patient interpret genetic test results and think about options.

If surgery is advised, the patient will have further discussions with the surgical specialists.

“Most of those people (who are tested for BRCA mutation) don't have a positive gene,” Dr. Rooney said. “But if you are positive, you have the opportunity of taking precautions to greatly reduce the risk. The implications are pretty important.”

Having breasts and ovaries removed profoundly reduces the risk of cancer, but even with post-mastectomy reconstructive surgery, it isn't something to be taken lightly.

“There is no way of getting around that this is a real life-changing event,” Dr. Rooney said.

He's seen women as young as 19 and as old as 79 who carried the BRCA gene mutation. For young women, there may be concerns about their ability to have children and whether they might pass on the mutation to their children. Removal of the ovaries would also put young women through hormonal changes of early menopause.

For Marta F. von Loewenfeldt, 59, a public relations professional who lives in Northboro, the decision was easy to have a double mastectomy and her ovaries removed after breast cancer was detected during a mammogram in December 2011.

Ms. von Loewenfeldt said her mother died of breast cancer at 59 and another relative on her mother's side also had the disease.

“We've always kind of had breast cancer on the brain,” she said. “It was an instantaneous decision because I had been thinking about it for a long time.”

Ms. von Loewenfeldt said that her father was of Ashkenazi Jewish descent and about 10 years ago, when she was living in New York, she had considered getting the BRCA test but didn't get around to it.

Once her breast cancer was diagnosed at UMass Memorial, however, she learned she carried the BRCA2 gene mutation. To her surprise, she had inherited it from her father.

“We were shocked,” she said. “My cancer is from my father's side and I never, ever gave it a thought. Genetic testing put a whole new light on that.”

Dr. Rooney said that BRCA mutations in men are often overlooked but they greatly increase the risk of male breast cancer and of an aggressive form of prostate cancer. And men can “silently” carry the gene even if they don't develop cancer themselves.

“If a man has the gene, that means that any one of his children can inherit the gene,” he said. “It doesn't mean they get away with it.”

Ms. von Loewenfeldt said the hardest part following her diagnosis was telling her five brothers and sisters, as well as her two grown daughters, about the BRCA2 mutation.

Three of her five siblings have been tested so far and one turned out to have the mutation.

One of her daughters, in her early 30s, underwent testing and learned she too carried the mutation. She is considering her options.

Ms. von Loewenfeldt said she'd had more than 100 doctor appointments last year, first with chemotherapy for her cancer and then to have her other organs, including her eyes, checked and monitored.

She had surgery to remove her breasts and ovaries and in June will complete the breast reconstruction surgical process. She added with a laugh that reconstruction involved grafting belly fat to smooth out the new breasts, an added bonus.

Ms. von Loewenfeldt said she was fortunate to have a job that allowed her to take time off for treatment, a good health insurance plan, top-notch local health care resources and a supportive “significant other” who accompanied her to all her appointments.

“Here it is a year-and-a-half later and I'm going to look great and feel great, and I just have to get checked regularly,” she said. Although the process was lengthy, “I've become a new me. I didn't lose me.”

Contact Susan Spencer at susan.spencer@telegram.com. Follow her on Twitter @SusanSpencerTG.

Never miss a story

Choose the plan that's right for you.
Digital access or digital and print delivery.